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An inherited disorder with splenomegaly, cytopenias, and vision loss.
Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM. Tantravahi SK, et al. Among authors: deangelis mm. Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3. Am J Med Genet A. 2012. PMID: 22307799 Free PMC article.
Temporal macular thinning associated with X-linked Alport syndrome.
Ahmed F, Kamae KK, Jones DJ, Deangelis MM, Hageman GS, Gregory MC, Bernstein PS. Ahmed F, et al. Among authors: deangelis mm. JAMA Ophthalmol. 2013 Jun;131(6):777-82. doi: 10.1001/jamaophthalmol.2013.1452. JAMA Ophthalmol. 2013. PMID: 23572034 Free PMC article.
FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression.
Owen LA, Morrison MA, Ahn J, Woo SJ, Sato H, Robinson R, Morgan DJ, Zacharaki F, Simeonova M, Uehara H, Chakravarthy U, Hogg RE, Ambati BK, Kotoula M, Baehr W, Haider NB, Silvestri G, Miller JW, Tsironi EE, Farrer LA, Kim IK, Park KH, DeAngelis MM. Owen LA, et al. Among authors: deangelis mm. Invest Ophthalmol Vis Sci. 2014 May 8;55(6):3543-54. doi: 10.1167/iovs.14-14047. Invest Ophthalmol Vis Sci. 2014. PMID: 24812550 Free PMC article.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Ratnapriya R, et al. Among authors: deangelis mm. Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4. Hum Mol Genet. 2014. PMID: 24899048 Free PMC article.
Differential Gene Expression in Age-Related Macular Degeneration.
Morgan DJ, DeAngelis MM. Morgan DJ, et al. Among authors: deangelis mm. Cold Spring Harb Perspect Med. 2014 Oct 23;5(8):a017210. doi: 10.1101/cshperspect.a017210. Cold Spring Harb Perspect Med. 2014. PMID: 25342062 Free PMC article. Review.
Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world.
Morrison MA, Magalhaes TR, Ramke J, Smith SE, Ennis S, Simpson CL, Portas L, Murgia F, Ahn J, Dardenne C, Mayne K, Robinson R, Morgan DJ, Brian G, Lee L, Woo SJ, Zacharaki F, Tsironi EE, Miller JW, Kim IK, Park KH, Bailey-Wilson JE, Farrer LA, Stambolian D, DeAngelis MM. Morrison MA, et al. Among authors: deangelis mm. Front Genet. 2015 Jul 9;6:238. doi: 10.3389/fgene.2015.00238. eCollection 2015. Front Genet. 2015. PMID: 26217379 Free PMC article.
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC,… See abstract for full author list ➔ Fritsche LG, et al. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
Epigenetic Mechanisms of the Aging Human Retina.
Pennington KL, DeAngelis MM. Pennington KL, et al. Among authors: deangelis mm. J Exp Neurosci. 2016 Feb 3;9(Suppl 2):51-79. doi: 10.4137/JEN.S25513. eCollection 2015. J Exp Neurosci. 2016. PMID: 26966390 Free PMC article. Review.
122 results